[一个先天性蛋白C缺乏家系中蛋白C基因的点突变]
[A point mutation of protein C gene in a congenital protein C deficiency pedigree].
作者信息
Liu Li, Guo Wen-ru, He Li-shan, Mu Hong, Jiang Yan, Huang Fan-qiang, Li Jia-zeng
机构信息
Institute of Thrombosis and Hemostasis, Tianjin First Central Hospital, Tianjin 300192, China.
出版信息
Zhonghua Xue Ye Xue Za Zhi. 2003 Mar;24(3):115-8.
OBJECTIVE
To study the phenotypes and genotypes of a protein C (PC) deficiency pedigree.
METHODS
Immunoassay (ELISA) was used for PC antigen and activated PC (APC) detection, PCR for amplification of the fragment of protein C gene exon II to exon IX, single-strand conformation polymorphism (SSCP) for difference of denatured cDNA and DNA sequencing for gene mutation.
RESULTS
Four members in the pedigree were found to be PC antigen levels between 34.3% - 67.8% and PC activity between 22% - 49% which are lower in comparison with normal references (80% - 120% and 70% - 130%, respectively). A G-to-A mutation in exon VII of the protein C gene at 6 219 position was identified in 9 members. This mutation resulted in the substitution of Arg for Gln at 169 amino acid.
CONCLUSION
The proband is of heterozygosity. The G6219 A mutation in exon VII of the protein C gene leads to the substitution of Arg 169 Gln. This mutation is reported for the first time in China.
目的
研究一个蛋白C（PC）缺乏家系的表型和基因型。
方法
采用免疫分析法（ELISA）检测PC抗原和活化PC（APC），用PCR扩增蛋白C基因外显子II至外显子IX片段，用单链构象多态性（SSCP）分析变性cDNA差异，用DNA测序检测基因突变。
结果
该家系中4名成员的PC抗原水平在34.3% - 67.8%之间，PC活性在22% - 49%之间，与正常参考值（分别为80% - 120%和70% - 130%）相比更低。在9名成员中鉴定出蛋白C基因外显子VII第6219位发生G到A的突变。该突变导致第169位氨基酸由精氨酸替换为谷氨酰胺。
结论
先证者为杂合子。蛋白C基因外显子VII的G6219A突变导致第169位精氨酸替换为谷氨酰胺。此突变在中国首次报道。
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